Skip to main content Accessibility help
×
Hostname: page-component-78c5997874-ndw9j Total loading time: 0 Render date: 2024-11-16T17:14:37.582Z Has data issue: false hasContentIssue false

Chapter 4 - Imaging in Metabolic Movement Disorders

from Section I - General Principles and a Phenomenology-Based Approach to Movement Disorders and Inherited Metabolic Disorders

Published online by Cambridge University Press:  24 September 2020

Darius Ebrahimi-Fakhari
Affiliation:
Harvard Medical School
Phillip L. Pearl
Affiliation:
Harvard Medical School
Get access

Summary

During the evaluation of a patient with a movement disorder, advanced neuroimaging is often obtained to narrow the diagnostic possibilities and also to assess the status of what is frequently a neurodegenerative process. In the other chapters of this monograph, specific metabolic causes of movement disorders are discussed in detail. In this chapter, we provide a pragmatic approach for integrating imaging data into the work-up of a patient with a movement disorder of uncertain etiology, heavily emphasizing brain MRI which is the cornerstone of imaging work-up for this indication. Our focus is on pediatric-onset disorders manifesting as dystonia, chorea, athetosis, tremor, parkinsonism, and myoclonus.

Type
Chapter
Information
Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
, pp. 43 - 68
Publisher: Cambridge University Press
Print publication year: 2020

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Parikh, S, Bernard, G, Leventer, RJ, et al. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 2015;114(4):501–15.CrossRefGoogle Scholar
Sedel, F, Saudubray, JM, Roze, E, Agid, Y, Vidailhet, M. Movement disorders and inborn errors of metabolism in adults: A diagnostic approach. J Inherit Metab Dis. 2008;31(3):308–18.CrossRefGoogle ScholarPubMed
van der Knaap, MS, Breiter, SN, Naidu, S, Hart, AA, Valk, J. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology. 1999;213(1):121–33.Google Scholar
van der Knaap, MS, Valk, J. Magnetic Resonance of Myelination and Myelin Disorders. 3rd edn. Berlin: Springer; 2005.Google Scholar
Barkovich, AJ, Metabolic, Patay Z., Toxic, and autoimmune/inflammatory brain disorders. In Barkovich, AJ, Raybaud, C, editors. Pediatric Neuroimaging. Philadelphia, PA: Wolters Kluwer; 2019, pp. 405632.Google ScholarPubMed
Yang, E, Prabhu, SP. Imaging manifestations of the leukodystrophies, inherited disorders of white matter. Radiol Clin North Am. 2014;52(2):279319.Google Scholar
Barkovich, MJ, Barkovich, AJ. Normal development of the fetal, neonatal, and infant brain, skull, and spine. In Barkovich, AJ, Raybaud, C, editors. Pediatric Neuroimaging. Philadelphia: Wolters Kluwer; 2019, pp. 1880.Google ScholarPubMed
Haacke, EM, Mittal, S, Wu, Z, Neelavalli, J, Cheng, YC. Susceptibility-weighted imaging: Technical aspects and clinical applications, part 1. AJNR Am J Neuroradiol. 2009;30(1):1930.CrossRefGoogle ScholarPubMed
Mittal, S, Wu, Z, Neelavalli, J, Haacke, EM. Susceptibility-weighted imaging: Technical aspects and clinical applications, part 2. AJNR Am J Neuroradiol. 2009;30(2):232–52.CrossRefGoogle ScholarPubMed
Aoki, S, Okada, Y, Nishimura, K, et al. Normal deposition of brain iron in childhood and adolescence: MR imaging at 1.5 T. Radiology. 1989;172(2):381–5.Google Scholar
Aquino, D, Bizzi, A, Grisoli, M, et al. Age-related iron deposition in the basal ganglia: Quantitative analysis in healthy subjects. Radiology. 2009;252(1):165–72.Google Scholar
Harder, SL, Hopp, KM, Ward, H, et al. Mineralization of the deep gray matter with age: A retrospective review with susceptibility-weighted MR imaging. AJNR Am J Neuroradiol. 2008;29(1):176–83.Google Scholar
Legido, A, Zimmerman, RA, Packer, RJ, et al. Significance of basal ganglia calcification on computed tomography in children. Pediatr Neurosci. 1988;14(2):6470.CrossRefGoogle ScholarPubMed
McKinney, AM. Basal ganglia: Physiologic calcification. In McKinney, AM, editor. Atlas of Normal Imaging Variation of the Brain, Skull, and Craniocervical Vasculature. Berlin: Springer; 2017, pp. 427–40.CrossRefGoogle Scholar
Chen, W, Zhu, W, Kovanlikaya, I, et al. Intracranial calcifications and hemorrhages: Characterization with quantitative susceptibility mapping. Radiology. 2014;270(2):496505.CrossRefGoogle ScholarPubMed
Saudubray, JM, van den Bergh, G, Walter, JH. Inborn Metabolic Diseases: Diagnosis and Treatment, 5th edn. Berlin: Springer; 2012.CrossRefGoogle Scholar
Brismar, J, Ozand, PT. CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients. Brain Dev. 1994;16 Suppl:104–24.CrossRefGoogle Scholar
Harting, I, Neumaier-Probst, E, Seitz, A, et al. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain. 2009;132(Pt 7):1764–82.CrossRefGoogle ScholarPubMed
Harting, I, Seitz, A, Geb, S, et al. Looking beyond the basal ganglia: The spectrum of MRI changes in methylmalonic acidaemia. J Inherit Metab Dis. 2008;31(3):368–78.CrossRefGoogle ScholarPubMed
Radmanesh, A, Zaman, T, Ghanaati, H, et al. Methylmalonic acidemia: Brain imaging findings in 52 children and a review of the literature. Pediatr Radiol. 2008;38(10):1054–61.Google Scholar
Schreiber, J, Chapman, KA, Summar, ML, et al. Neurologic considerations in propionic acidemia. Mol Genet Metab. 2012;105(1):10–5.Google Scholar
Strauss, KA, Lazovic, J, Wintermark, M, Morton, DH. Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. Brain. 2007;130(Pt 7):1905–20.CrossRefGoogle ScholarPubMed
Bonfante, E, Koenig, MK, Adejumo, RB, Perinjelil, V, Riascos, RF. The neuroimaging of Leigh syndrome: Case series and review of the literature. Pediatr Radiol. 2016;46(4):443–51.CrossRefGoogle ScholarPubMed
Bricout, M, Grevent, D, Lebre, AS, et al. Brain imaging in mitochondrial respiratory chain deficiency: Combination of brain MRI features as a useful tool for genotype/phenotype correlations. J Med Genet. 2014;51(7):429–35.Google Scholar
Morava, E, van den Heuvel, L, Hol, F, et al. Mitochondrial disease criteria: Diagnostic applications in children. Neurology. 2006;67(10):1823–6.CrossRefGoogle ScholarPubMed
Tabarki, B, Al-Shafi, S, Al-Shahwan, S, et al. Biotin-responsive basal ganglia disease revisited: Clinical, radiologic, and genetic findings. Neurology. 2013;80(3):261–7.Google Scholar
Kobayashi, O, Takashima, S. Thalamic hyperdensity on CT in infantile GM1-gangliosidosis. Brain Dev. 1994;16(6):472–4.Google Scholar
Muthane, U, Chickabasaviah, Y, Kaneski, C, et al. Clinical features of adult GM1 gangliosidosis: Report of three Indian patients and review of 40 cases. Mov Disord. 2004;19(11):1334–41.Google Scholar
van Wassenaer-van Hall, HN, van den Heuvel, AG, Algra, A, Hoogenraad, TU, Mali, WP. Wilson disease: Findings at MR imaging and CT of the brain with clinical correlation. Radiology. 1996;198(2):531–6.Google Scholar
Prashanth, LK, Sinha, S, Taly, AB, Vasudev, MK. Do MRI features distinguish Wilson’s disease from other early onset extrapyramidal disorders? An analysis of 100 cases. Mov Disord. 2010;25(6):672–8.Google Scholar
Skowronska, M, Litwin, T, Dziezyc, K, Wierzchowska, A, Czlonkowska, A. Does brain degeneration in Wilson disease involve not only copper but also iron accumulation? Neurol Neurochir Pol. 2013;47(6):542–6.Google Scholar
Mercimek-Mahmutoglu, S, Stoeckler-Ipsiroglu, S, Adami, A, et al. GAMT deficiency: Features, treatment, and outcome in an inborn error of creatine synthesis. Neurology. 2006;67(3):480–4.CrossRefGoogle Scholar
van Toorn, R, Brink, P, Smith, J, Ackermann, C, Solomons, R. Bilirubin-induced neurological dysfunction: A clinico-radiological-neurophysiological correlation in 30 consecutive children. J Child Neurol. 2016;31(14):1579–83.Google Scholar
Zuccoli, G, Santa Cruz, D, Bertolini, M, et al. MR imaging findings in 56 patients with Wernicke encephalopathy: Nonalcoholics may differ from alcoholics. AJNR Am J Neuroradiol. 2009;30(1):171–6.Google Scholar
Lai, PH, Tien, RD, Chang, MH, et al. Chorea-ballismus with nonketotic hyperglycemia in primary diabetes mellitus. AJNR Am J Neuroradiol. 1996;17(6):1057–64.Google ScholarPubMed
Pearl, PL, Vezina, LG, Saneto, RP, et al. Cerebral MRI abnormalities associated with vigabatrin therapy. Epilepsia. 2009;50(2):184–94.CrossRefGoogle ScholarPubMed
Krageloh-Mann, I, Horber, V. The role of magnetic resonance imaging in elucidating the pathogenesis of cerebral palsy: A systematic review. Dev Med Child Neurol. 2007;49(2):144–51.Google Scholar
Schwartz, ES, Barkovich, AJ. Brain and spine injuries in infancy and childhood. In Barkovich, AJ, Raybaud, C, editors. Pediatric Neuroimaging. Philadelphia, PA: Wolters Kluwer; 2019, pp. 405632.Google Scholar
Gonzalez-Alegre, P, Afifi, AK. Clinical characteristics of childhood-onset (juvenile) Huntington disease: Report of 12 patients and review of the literature. J Child Neurol. 2006;21(3):223–9.CrossRefGoogle ScholarPubMed
Basel-Vanagaite, L, Muncher, L, Straussberg, R, et al. Mutated NUP62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol. 2006;60(2):214–22.Google Scholar
Neilson, DE. The interplay of infection and genetics in acute necrotizing encephalopathy. Curr Opin Pediatr. 2010;22(6):751–7.Google Scholar
Gregory, A, Hayflick, S. Neurodegeneration with brain iron accumulation. GeneReviews®. 2013;Feb 28 (updated Oct 21, 2019).Google Scholar
Di Meo, I, Tiranti, V. Classification and molecular pathogenesis of NBIA syndromes. Eur J Paediatr Neurol. 2018;22(2):272–84.Google Scholar
Kruer, MC, Boddaert, N, Schneider, SA, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol. 2012;33(3):407–14.Google Scholar
Hayflick, SJ, Hartman, M, Coryell, J, Gitschier, J, Brain, Rowley H. MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am J Neuroradiol. 2006;27(6):1230–3.Google Scholar
Hayflick, SJ, Westaway, SK, Levinson, B, et al. Genetic, clinical, and radiographic delineation of Hallervorden–Spatz syndrome. N Engl J Med. 2003;348(1):3340.CrossRefGoogle ScholarPubMed
Iodice, A, Spagnoli, C, Salerno, GG, et al. Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis. Brain Dev. 2017;39(2):93100.Google Scholar
McNeill, A, Birchall, D, Hayflick, SJ, et al. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 2008;70(18):1614–9.Google Scholar
Wynn, DP, Pulst, SM. A novel WDR45 mutation in a patient with beta-propeller protein-associated neurodegeneration. Neurol Genet. 2017;3(1):e124.Google Scholar
Quadri, M, Federico, A, Zhao, T, et al. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet. 2012;90(3):467–77.Google Scholar
Tuschl, K, Meyer, E, Valdivia, LE, et al. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia. Nat Commun. 2016;7:11601.Google Scholar
Rodan, LH, Hauptman, M, D’Gama, AM, et al. Novel founder intronic variant in SLC39A14 in two families causing manganism and potential treatment strategies. Mol Genet Metab. 2018;124(2):161–7.CrossRefGoogle ScholarPubMed
Ramos, EM, Carecchio, M, Lemos, R, et al. Primary brain calcification: An international study reporting novel variants and associated phenotypes. Eur J Hum Genet. 2018;26(10):1462–77.CrossRefGoogle Scholar
Yao, XP, Cheng, X, Wang, C, et al. Mutations in MYORG cause autosomal recessive primary familial brain calcification. Neuron. 2018;98(6):1116–23 e5.Google Scholar
Steenweg, ME, Vanderver, A, Blaser, S, et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain. 2010;133(10):2971–82.CrossRefGoogle ScholarPubMed
De Grandis, E, Di Rocco, M, Pessagno, A, Veneselli, E, Rossi, A. MR imaging findings in 2 cases of late infantile GM1 gangliosidosis. AJNR Am J Neuroradiol. 2009;30(7):1325–7.Google Scholar
Livingston, JH, Stivaros, S, van der Knaap, MS, Crow, YJ. Recognizable phenotypes associated with intracranial calcification. Dev Med Child Neurol. 2013;55(1):4657.Google Scholar
Nelson, MD, Jr., Wolff, JA, Cross, CA, Donnell, GN, Kaufman, FR. Galactosemia: Evaluation with MR imaging. Radiology. 1992;184(1):255–61.Google Scholar
Berry, GT, Hunter, JV, Wang, Z, et al. In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. J Pediatr. 2001;138(2):260–2.CrossRefGoogle Scholar
Morton, DH, Strauss, KA, Robinson, DL, Puffenberger, EG, Kelley, RI. Diagnosis and treatment of maple syrup disease: A study of 36 patients. Pediatrics. 2002;109(6):9991008.Google Scholar
Carecchio, M, Schneider, SA, Chan, H, et al. Movement disorders in adult surviving patients with maple syrup urine disease. Mov Disord. 2011;26(7):1324–8.Google Scholar
Cavalleri, F, Berardi, A, Burlina, AB, Ferrari, F, Mavilla, L. Diffusion-weighted MRI of maple syrup urine disease encephalopathy. Neuroradiology. 2002;44(6):499502.Google Scholar
Khong, PL, Lam, BC, Chung, BH, Wong, KY, Ooi, GC. Diffusion-weighted MR imaging in neonatal nonketotic hyperglycinemia. AJNR Am J Neuroradiol. 2003;24(6):1181–3.Google Scholar
Santavuori, P, Vanhanen, SL, Autti, T. Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders. Eur J Paediatr Neurol. 2001;5 Suppl A:157–61.CrossRefGoogle ScholarPubMed
Fu, J, Dumitrescu, AM. Inherited defects in thyroid hormone cell-membrane transport and metabolism. Best Pract Res Clin Endocrinol Metab. 2014;28(2):189201.CrossRefGoogle ScholarPubMed
Vaurs-Barriere, C, Deville, M, Sarret, C, et al. Pelizaeus–Merzbacher-like disease presentation of MCT8 mutated male subjects. Ann Neurol. 2009;65(1):114–8.Google Scholar
Hao, J, Kelly, DI, Su, J, Pascual, JM. Clinical aspects of glucose transporter type 1 deficiency: Information from a global registry. JAMA Neurol. 2017;74(6):727–32.Google Scholar
Group, N-CGW, Wraith, JE, Baumgartner, MR, et al. Recommendations on the diagnosis and management of Niemann–Pick disease type C. Mol Genet Metab. 2009;98(1–2):152–65.Google Scholar
Harris, JC, Lee, RR, Jinnah, HA, et al. Craniocerebral magnetic resonance imaging measurement and findings in Lesch–Nyhan syndrome. Arch Neurol. 1998;55(4):547–53.Google Scholar
Jurecka, A, Zikanova, M, Kmoch, S, Tylki-Szymanska, A. Adenylosuccinate lyase deficiency. J Inherit Metab Dis. 2015;38(2):231–42.Google Scholar
Waisbren, SE, Prabhu, SP, Greenstein, P, et al. Improved measurement of brain phenylalanine and tyrosine related to neuropsychological functioning in phenylketonuria. JIMD Rep. 2017;34:7786.Google Scholar
Jang, D-H. AB052. Application of facial dysmorphology analysis technology (Face2gene) in Korean rare genetic diseases. Ann Transl Med. 2017;Sep 5(Suppl 2):AB052.Google Scholar
Faria, AV, Liang, Z, Miller, MI, Mori, S. Brain MRI pattern recognition translated to clinical scenarios. Front Neurosci. 2017;11:578.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×